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.2004 Mar;113(3 Pt 1):565-73.
doi: 10.1542/peds.113.3.565.

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

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Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

Merlin G Butler et al. Pediatrics.2004 Mar.

Abstract

Objective: To determine whether phenotypic differences exist among individuals with Prader-Willi syndrome with either type I or type II deletions of chromosome 15 or maternal disomy 15 leading to a better understanding of cause and pathophysiology of this classical genetic syndrome.

Methods: We analyzed clinical, anthropometric, and behavioral data in 12 individuals (5 men, 7 women; mean age: 25.9 +/- 8.8 years) with PWS and a type I (TI) deletion, 14 individuals (6 men, 8 women; mean age: 19.6 +/- 6.5 years) with PWS and a type II (TII) deletion, and 21 individuals (10 men, 11 women; mean age: 23.6 +/- 9.2 years) with PWS and maternal disomy 15 (UPD). The deletion type was determined by genotyping of DNA markers between proximal chromosome 15 breakpoints BP1 and BP2. TI deletions are approximately 500 kb larger than TII deletions. Several validated psychological and behavioral tests were used to assess phenotypic characteristics of individuals with PWS representing the 3 genetic subtypes.

Results: Significant differences were found between the 2 deletion groups and those with UPD in multiple psychological and behavioral tests, but no differences were observed in other clinical or anthropometric data studied. Adaptive behavior scores were generally worse in individuals with PWS and the TI deletion, and specific obsessive-compulsive behaviors were more evident in the TI individuals compared with those with UPD. Individuals with PWS with TI deletions also had poorer reading and math skills as well as visual-motor integration.

Conclusions: Our study indicates that individuals with TI deletion generally have more behavioral and psychological problems than individuals with the TII deletion or UPD. Four recently identified genes have been identified in the chromosome region between BP1 and BP2 with 1 of the genes (NIPA-1) expressed in mouse brain tissue but not thought to be imprinted. It may be important for brain development or function. These genes are deleted in individuals with TI deletion and are implicated in compulsive behavior and lower intellectual ability in individuals with TI versus TII.

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Figures

Fig 1.
Fig 1.
Microsatellite pattern for D15S1035 locus from an individual with PWS and parental DNA isolated from peripheral blood using an ABI 310 automated capillary sequencer. Only 1 DNA signal pattern is seen in the individual with PWS and inherited from the mother, whereas no DNA signal was observed from the father, indicating a paternal TI deletion in the individual with PWS.
Fig 2.
Fig 2.
Microsatellite pattern for D15S1035 locus from an individual with PWS and parental DNA isolated from peripheral blood using an ABI 310 automated capillary sequencer. Two DNA signal patterns are seen from the individual with PWS, indicating inheritance of a D15S1035 allele from each parent. Genetic testing showed a deletion of the 15q11-q13 region in the individual with PWS but not for the D15S1035 locus, indicating a TII deletion.
Fig 3.
Fig 3.
Histograms of maladaptive behavior, adaptive behavior, obsessive-compulsive behavior, academic achievement, and intelligence (standard score) data showing significant differences among the 3 PWS genetic subtypes (TI deletion, TII deletion, and UPD). A, TI deletion versus TII deletion; B, TI deletion versus UPD; C, TII deletion versus UPD; *P < .05; **P < .01; ***P ≤ .001.
Fig 4.
Fig 4.
Histograms of visual processing (Vineland Motor Inventory), SIB externalized maladaptive index, and verbal IQ data showing significant differences among the 3 PWS genetic subtypes (TI deletion, TII deletion, and UPD). A, TI deletion versus TII deletion; B, TI deletion versus UPD; C, TII deletion versus UPD; *P < .05; **P < .01; ***P ≤ .001.
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References

    1. Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990;35:319–332 - PMC - PubMed
    1. Butler MG, Thompson T. Prader-Willi syndrome: clinical and genetic findings. Endocrinologist 2000;10:3S–16S - PMC - PubMed
    1. Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genom Hum Genet. 2001;2:153–175 - PubMed
    1. Cassidy SB. Prader-Willi syndrome. J Med Genet. 1997;34:917–923 - PMC - PubMed
    1. Mewborn SK, Milley NL, Fantes JA, et al. Break point junction fragments in Prader-Willi and Angelman syndrome (PWS/AS) deletion patients reveal variable breakpoints within large duplicons. Am J Hum Genet. 2002;71:A298

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